ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.1927C>T (p.Gln643Ter)

dbSNP: rs1563240592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000721867 SCV000853016 likely pathogenic not provided 2016-04-20 criteria provided, single submitter clinical testing
Provincial Medical Genetics Program of British Columbia, University of British Columbia RCV002067078 SCV002320868 likely pathogenic Cerebral cavernous malformation 2022-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067078 SCV004294489 pathogenic Cerebral cavernous malformation 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln643*) in the KRIT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KRIT1 are known to be pathogenic (PMID: 10508515, 11222804, 12404106, 24689081). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with cerebral cavernous malformations (PMID: 27790124, 34558799). ClinVar contains an entry for this variant (Variation ID: 590726). For these reasons, this variant has been classified as Pathogenic.

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